Incidental Mutation 'IGL03093:Lingo1'
ID 418471
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lingo1
Ensembl Gene ENSMUSG00000049556
Gene Name leucine rich repeat and Ig domain containing 1
Synonyms UNQ201, 4930471K13Rik, Lrrn6a, LINGO-1, LERN1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.228) question?
Stock # IGL03093
Quality Score
Status
Chromosome 9
Chromosomal Location 56525759-56703752 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 56526748 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 614 (I614V)
Ref Sequence ENSEMBL: ENSMUSP00000148179 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053568] [ENSMUST00000114247] [ENSMUST00000114256] [ENSMUST00000210032]
AlphaFold Q9D1T0
Predicted Effect possibly damaging
Transcript: ENSMUST00000053568
AA Change: I614V

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000059050
Gene: ENSMUSG00000049556
AA Change: I614V

DomainStartEndE-ValueType
low complexity region 21 32 N/A INTRINSIC
LRRNT 35 69 1.6e-3 SMART
LRR 88 111 6.22e0 SMART
LRR_TYP 112 135 5.81e-2 SMART
LRR 136 159 6.57e-1 SMART
LRR 160 183 3.02e0 SMART
LRR 184 207 1.51e0 SMART
LRR 208 231 1.81e2 SMART
LRR 280 303 8.26e1 SMART
LRR 304 327 9.24e1 SMART
LRR 328 351 1.43e-1 SMART
LRRCT 363 416 4.15e-2 SMART
IGc2 431 498 1.58e-10 SMART
transmembrane domain 554 576 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000114247
AA Change: I614V

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000109885
Gene: ENSMUSG00000049556
AA Change: I614V

DomainStartEndE-ValueType
low complexity region 21 32 N/A INTRINSIC
LRRNT 35 69 1.6e-3 SMART
LRR 88 111 6.22e0 SMART
LRR_TYP 112 135 5.81e-2 SMART
LRR 136 159 6.57e-1 SMART
LRR 160 183 3.02e0 SMART
LRR 184 207 1.51e0 SMART
LRR 208 231 1.81e2 SMART
LRR 280 303 8.26e1 SMART
LRR 304 327 9.24e1 SMART
LRR 328 351 1.43e-1 SMART
LRRCT 363 416 4.15e-2 SMART
IGc2 431 498 1.58e-10 SMART
transmembrane domain 554 576 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000114256
AA Change: I620V

PolyPhen 2 Score 0.757 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000109894
Gene: ENSMUSG00000049556
AA Change: I620V

DomainStartEndE-ValueType
low complexity region 27 38 N/A INTRINSIC
LRRNT 41 75 1.6e-3 SMART
LRR 94 117 6.22e0 SMART
LRR_TYP 118 141 5.81e-2 SMART
LRR 142 165 6.57e-1 SMART
LRR 166 189 3.02e0 SMART
LRR 190 213 1.51e0 SMART
LRR 214 237 1.81e2 SMART
LRR 286 309 8.26e1 SMART
LRR 310 333 9.24e1 SMART
LRR 334 357 1.43e-1 SMART
LRRCT 369 422 4.15e-2 SMART
IGc2 437 504 1.58e-10 SMART
transmembrane domain 560 582 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181927
Predicted Effect possibly damaging
Transcript: ENSMUST00000210032
AA Change: I614V

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit early-onset CNS myelination. [provided by MGI curators]
Allele List at MGI

All alleles(1) : Targeted, knock-out(1)

Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Add3 A G 19: 53,219,638 (GRCm39) D121G probably damaging Het
Cacna1s A G 1: 136,043,802 (GRCm39) D1380G probably benign Het
Clca3a1 T C 3: 144,453,262 (GRCm39) Y487C probably damaging Het
Coro2a A G 4: 46,544,158 (GRCm39) S278P possibly damaging Het
Creb3l3 A G 10: 80,927,047 (GRCm39) S128P probably benign Het
Dab2 A G 15: 6,465,892 (GRCm39) R697G probably damaging Het
Erap1 T C 13: 74,823,399 (GRCm39) F811S probably benign Het
Fam170b A G 14: 32,557,482 (GRCm39) S106G probably damaging Het
Galk2 T C 2: 125,771,563 (GRCm39) L196P probably damaging Het
Gan T C 8: 117,910,314 (GRCm39) M81T probably benign Het
Gemin2 A G 12: 59,068,511 (GRCm39) T197A probably benign Het
Hemgn A T 4: 46,396,504 (GRCm39) M244K probably benign Het
Htr6 A G 4: 138,789,080 (GRCm39) F325S probably damaging Het
Igkv9-120 A G 6: 68,027,398 (GRCm39) D104G probably damaging Het
Itpr2 A C 6: 146,281,008 (GRCm39) I216S probably damaging Het
Mep1b C T 18: 21,226,710 (GRCm39) T524M probably benign Het
Mtif2 A G 11: 29,480,702 (GRCm39) probably benign Het
Mylk G A 16: 34,732,562 (GRCm39) R614H possibly damaging Het
Or2ag2 T C 7: 106,485,410 (GRCm39) T205A probably benign Het
Or52s19 T C 7: 103,007,446 (GRCm39) probably benign Het
Pabpc4 G A 4: 123,180,502 (GRCm39) D75N probably damaging Het
Paics T A 5: 77,109,355 (GRCm39) probably null Het
Prl T A 13: 27,248,870 (GRCm39) I172N probably benign Het
Ripk2 A G 4: 16,152,056 (GRCm39) S168P probably damaging Het
Siglecf T C 7: 43,001,865 (GRCm39) V225A probably damaging Het
Slc36a1 A G 11: 55,110,430 (GRCm39) I86V probably benign Het
Slc6a13 A G 6: 121,309,407 (GRCm39) Y306C probably damaging Het
Soat2 T A 15: 102,066,078 (GRCm39) L250Q probably damaging Het
Tex38 A G 4: 115,637,762 (GRCm39) S14P probably damaging Het
Tm2d1 A T 4: 98,268,921 (GRCm39) C59S possibly damaging Het
Tmco1 A G 1: 167,143,848 (GRCm39) D82G probably damaging Het
Tmem245 G A 4: 56,886,019 (GRCm39) R866W probably damaging Het
Tnip1 G T 11: 54,831,652 (GRCm39) Y7* probably null Het
Trp73 A G 4: 154,189,330 (GRCm39) M48T probably benign Het
Tslp T C 18: 32,948,612 (GRCm39) probably benign Het
Usp47 T C 7: 111,688,827 (GRCm39) F745L probably damaging Het
Vmn2r53 T A 7: 12,334,791 (GRCm39) T290S probably benign Het
Wdr1 T C 5: 38,718,472 (GRCm39) D30G probably benign Het
Zkscan2 T C 7: 123,094,073 (GRCm39) Y247C probably benign Het
Other mutations in Lingo1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01648:Lingo1 APN 9 56,527,111 (GRCm39) missense probably damaging 1.00
IGL02335:Lingo1 APN 9 56,527,365 (GRCm39) missense probably damaging 1.00
3-1:Lingo1 UTSW 9 56,527,704 (GRCm39) missense probably benign 0.02
R1840:Lingo1 UTSW 9 56,527,842 (GRCm39) missense probably benign 0.38
R1932:Lingo1 UTSW 9 56,526,934 (GRCm39) missense possibly damaging 0.89
R2475:Lingo1 UTSW 9 56,526,910 (GRCm39) missense probably benign 0.03
R3439:Lingo1 UTSW 9 56,528,017 (GRCm39) missense probably benign 0.23
R3870:Lingo1 UTSW 9 56,527,009 (GRCm39) missense probably benign 0.00
R4241:Lingo1 UTSW 9 56,527,386 (GRCm39) missense probably damaging 1.00
R4701:Lingo1 UTSW 9 56,527,542 (GRCm39) missense probably damaging 1.00
R4757:Lingo1 UTSW 9 56,527,209 (GRCm39) missense probably benign 0.14
R5451:Lingo1 UTSW 9 56,527,711 (GRCm39) missense probably damaging 1.00
R6190:Lingo1 UTSW 9 56,526,934 (GRCm39) missense possibly damaging 0.89
R6254:Lingo1 UTSW 9 56,527,371 (GRCm39) missense possibly damaging 0.55
R6836:Lingo1 UTSW 9 56,527,056 (GRCm39) missense probably damaging 0.99
R6849:Lingo1 UTSW 9 56,526,900 (GRCm39) missense probably damaging 1.00
R6935:Lingo1 UTSW 9 56,527,149 (GRCm39) missense probably damaging 1.00
R7051:Lingo1 UTSW 9 56,527,467 (GRCm39) missense probably benign 0.35
R7116:Lingo1 UTSW 9 56,527,911 (GRCm39) missense probably benign 0.17
R7196:Lingo1 UTSW 9 56,527,903 (GRCm39) missense probably damaging 1.00
R7470:Lingo1 UTSW 9 56,527,908 (GRCm39) missense probably damaging 1.00
R7471:Lingo1 UTSW 9 56,528,167 (GRCm39) nonsense probably null
R7804:Lingo1 UTSW 9 56,526,798 (GRCm39) missense probably benign 0.00
R8179:Lingo1 UTSW 9 56,527,134 (GRCm39) missense probably damaging 1.00
R8534:Lingo1 UTSW 9 56,528,353 (GRCm39) missense probably benign 0.00
R8684:Lingo1 UTSW 9 56,528,106 (GRCm39) missense probably damaging 0.98
R9430:Lingo1 UTSW 9 56,527,512 (GRCm39) missense probably benign 0.09
R9794:Lingo1 UTSW 9 56,528,592 (GRCm39) missense probably benign
X0023:Lingo1 UTSW 9 56,527,312 (GRCm39) nonsense probably null
Z1177:Lingo1 UTSW 9 56,528,226 (GRCm39) missense possibly damaging 0.87
Posted On 2016-08-02